ZMP
col9a1
Ensembl ID:
ZFIN ID:
Description:
collagen type IX alpha I [Source:RefSeq peptide;Acc:NP_998429]
Human Orthologue:
COL9A1
Human Description:
collagen, type IX, alpha 1 [Source:HGNC Symbol;Acc:2217]
Mouse Orthologue:
Col9a1
Mouse Description:
collagen, type IX, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88465]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa35569 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa22364 | Essential Splice Site | Available for shipment | Available now |
| sa12182 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa35569
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000045434 | Nonsense | 10 | 546 | 1 | 24 |
| ENSDART00000131508 | Nonsense | 145 | 681 | 9 | 32 |
Genomic Location (Zv9):
Chromosome 13 (position 39711550)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 39025651 |
| GRCz11 | 13 | 39151541 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTATTTTGCAAAACAGGGAGCCATGGGTGTGAGAGGACCACAGGGACCC[A/T]GAGGACCAACAGGGCCCAGAGTGAGTATCACTGATAAAAAAATCCAAATA
Long Flanking Sequence:
ATGTTCATTTCATTGTTAGTAAATCCAAACGTGAGCGTGAAACCTGGCATACGCAAAGTTTTCGTGCGCATGCAGGGTTGATACATGAAGCTCCTGGTGTGTGTTTCTGTGCTACTTTTAAAGTCCATATAATCAGTTCTGAACAGCTTCAGCTGTGTGTTAGCAATCAGTGGGAAACCGGAACAGGTGTGTGTGTGTGTGGTGCATGACTGGATCTTCTAGTCCATATACCGGCGGATAGGTAGTTCTATGTGATCTGTGAGTTTCCAGCGATCTATAAGGGTTAAATGGCTGGTGATTGGGACACAGCCTTTTTTATTTGGACTCTGTTAAGTTTTTTTTATTATTATTTGTGTTTCATGGTTAACTATTGCTGCAGTCTTTCTCTAAGTTTTACCGTTTTGTAAATCTATCTAAAAAATAAGCAACTTTATGAATGCTTAATTGATTTCTATTTTGCAAAACAGGGAGCCATGGGTGTGAGAGGACCACAGGGACCC[A/T]GAGGACCAACAGGGCCCAGAGTGAGTATCACTGATAAAAAAATCCAAATACTTAACGGTCACCATTTACTTCCATAGTAGGAAAAAAATTCAATGGTGACCATAAACTAGAAATGTCTGGTGATTAATCATTCTGGATGTGAACTACTCCTTTAAGCCTCAGAAATATGCATTTGTCAATCCAACATTACTCTTATACCTAATCAACGTTTTTAATTTGGAACATCTCTCAGAGCAGCAATTATAATTAAGACACAACTACTTTCTTAAGTGACTAATTAGCTTCCCCAACATCAGATTCAAACTCGATAAAAATAATATAAATTTTTTTGTGTTTACAGGGAGCTGCAGGGATGTTGGGTGGATCTATGGAACTGGTAAGAGGACATTTTATTTGGTGCTCTATCATAAAGATTTTGTTGAAAATCATGTAAAAGACATATTGTTAACATTAGGATGGCTATTAGTTATGGTTTGATTGAATTGAATGAATAATCTGAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22364
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000045434 | Essential Splice Site | 207 | 546 | 13 | 24 |
| ENSDART00000131508 | Essential Splice Site | 342 | 681 | 21 | 32 |
Genomic Location (Zv9):
Chromosome 13 (position 39701639)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 39015740 |
| GRCz11 | 13 | 39141630 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATTTTGTGAGGTGGTAACCAATGGTATATACCATACTTCTTCCAATGAC[A/T]GGGTAACGCTGGACAACCAGGCCTTATTGGCACTATGGGATCTTCAGGCA
Long Flanking Sequence:
TCTTGCATGCAATCGTATACTGCTTTATATGACATCAAAAACAGCATATACCAGTGGTTCTCAAAGTGTGGTATGAATATGATGACCTCTGTCTTATATTTATTAGGTCTTGGTTCTAGGTTTTGATGAATAGGTTACAATTTGTTACTACTTCACATTTAAGTACAGAAGTTTTCTTTTTACTTTTTAAGAACAGTAGCCTACCATTTTTAATGAACTTTTAATTTAAATGTTGACATTTTATTTTTAATTTATTTCCTATGAGCACAGTACATTGTAAATGTTCAAACTGTTTATAATGTTTAAAGTTGCTAACAATTAAAAATATTATAAATAATAGAATTACTCTGCCTCCTTTTTGTAACTGTACAGAGCTGTAGCTTCTTAAATAGGCCTACTACGCTCATGTATTTCAGTACTGGTCATTATGGTGGTTCTTGGAGAGACAATGATTTTGTGAGGTGGTAACCAATGGTATATACCATACTTCTTCCAATGAC[A/T]GGGTAACGCTGGACAACCAGGCCTTATTGGCACTATGGGATCTTCAGGCAAACAAGTAAGTAAATGGTCTAAATCTTGACCATACATGTTCATGAACAGATGATTTGTAGTAAATAAATATCTCTATTCAGGGTGAACGTGGAGAACAAGGAGAACTCGGACCCATTGGGCCTATTGGACTAGCTGTAAGTCCTCAATACAGCATGACTAATGGCTAATGCACAGGTCGAAAGTGTCTATATTTACTCACCTAAGAGTATCTAGAAGGTAATGATGGTTTATTTGTGTTTAGGGAGACCGCGGAGAACAGGGACCCGTTGGACCGATGGGGAAACCAGGAGCCAGAGTATGTGCATAATCTGTATAATGAGATGGTTTCAGAATCAAAGCAAGCATCTGCTGTACTTTACTTTCATCATAGAAATTACTGAATGATGTGAAAAGCTTTGCCTGTAAGAGATGAGGGTCCTCGGGTCACCTTTTAAGGGCCAGCAAACATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12182
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000045434 | Essential Splice Site | 390 | 546 | 22 | 24 |
| ENSDART00000131508 | Essential Splice Site | 525 | 681 | 30 | 32 |
| ENSDART00000045434 | Essential Splice Site | 390 | 546 | 22 | 24 |
| ENSDART00000131508 | Essential Splice Site | 525 | 681 | 30 | 32 |
Genomic Location (Zv9):
Chromosome 13 (position 39684695)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 38998796 |
| GRCz11 | 13 | 39124686 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATAGCGGGGGAACATCVGCACTCATTAGTGCGTYTGCTCTTTGTGCTTTC[A/T]GAGCAGTTGGCACAGTTGGCTGCCAGTCTGAGGAGMCCAGAGTCTGGAGC
Long Flanking Sequence:
GAATGTTGTTCCGGGATCAACATGGATGTTACTCCAGGAACAGGTCCTACTAGGTGAAATCAGGTTGGCGGTGGTGTTAGATTTTACAGTTTACTGTATTTTTTATCATATAAATGCAGTCTTGGTTAGCAGAAAAAGCTCATATTCAAACATATATATATATATATATATATGGTATTTTTTACAAATACCAATGGCAATAGTTTTCACCAACAGTTTTCAGCAATAGCACAATAATAAAAAAAGCTCCGTCTCTAAGGTATACCTGTTTAATCCAAAATTTTACATTCAGTAATGGAAAGGTATTATGTGAGAACTAAAAGCAGGAATATGTGCATCAACCTAAAGGAGGCGCCGTAGCATTATTACAGAACGCCGTAAGTATGCAGTGCTAATTAGTGAAAGCAACATCAAAATCAGTGGAGAAATGAAATGAAAACTGTAGCGCTAATAGCGGGGGAACATCGGCACTCATTAGTGCGTTTGCTCTTTGTGCTTTC[A/T]GAGCAGTTGGCACAGTTGGCTGCCAGTCTGAGGAGACCAGAGTCTGGAGCAGTTGGACTACCAGGCAAACCTGGACCTCCGGGACCTCCCGGGCCCCAAGGTGACAGTGGTTTCCCGGGGCATGCAGGATCCAGAGGATTGCCGGGACTTAAAGGGCCTCCGGGACTGATGGGTGTCAAGGGGCCAAAAGGTCAGTCATTATGGGACATTATGATTCATTATGAGTTCAGGCTGCTGGTCCTGGAAGAGCAATATGTGATTTAATTGAGTATAGCATGGCCTATCAAATGGGGGATTAAAAACAGGGTAATAATTAAATCTAATTGCACAATTAATTGACAATAAAAAATGTGAGTAGTAATTATAAAAGTTCATATTATCATAAATATGCTACATTTTTGTGGATAGCATTTAATGGAATTTTATAAACCATTATTCCATCCGAATAAAAGCTTTAATGTTTGATAATTTGAGAGTGAATAATTAAATACATCACTATT
Associated Phenotype:
Not determined